Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

Background: Lafora disease is a progressive myoclonus epilepsy with polyglucosan accumulations and a peculiar neurodegeneration with generalised organellar disintegration. It causes severe seizures, leading to dementia and eventually death in early adulthood. Methods: One Lafora disease gene, EPM2A,...

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Detaylı Bibliyografya
Asıl Yazarlar: Chan, E, Bulman, D, Paterson, A, Turnbull, J, Andermann, E, Andermann, F, Rouleau, G, Delgado-Escueta, A, Scherer, S, Minassian, B
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2003
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735578/
https://ncbi.nlm.nih.gov/pubmed/12960212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.9.671
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